Canonical Allele Identifier: CA499227116

Gene: ADAP2

Linked Data

• gnomAD v4: 17-30956384-T-G
• MyVariant Identifiers: chr17:g.29283402T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30956384T>G , CM000679.2:g.30956384T>G	GRCh38
NC_000017.10:g.29283402T>G , CM000679.1:g.29283402T>G	GRCh37
NC_000017.9:g.26307528T>G	NCBI36
NG_051975.1:g.39649T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330889.8:c.1026T>G MANE Select	ENSP00000329468.3:p.Thr342=
ENST00000330889.7:c.1026T>G	ENSP00000329468.3:p.Thr342=
ENST00000470962.1:n.446T>G
ENST00000480980.1:n.460T>G
ENST00000580525.5:c.1044T>G	ENSP00000464121.1:p.Thr348=
ENST00000581285.5:c.942T>G	ENSP00000464155.1:p.Thr314=
ENST00000584828.5:c.395T>G
ENST00000585130.5:c.*625T>G	ENSP00000464120.1:n.*625T>G
NM_018404.2:c.1026T>G	NP_060874.1:p.Thr342=
XM_005258008.2:c.1044T>G	XP_005258065.1:p.Thr348=
XM_005258011.2:c.981T>G	XP_005258068.1:p.Thr327=
XM_006721973.2:c.1044T>G	XP_006722036.1:p.Thr348=
XM_011524993.1:c.1041T>G	XP_011523295.1:p.Thr347=
XM_011524994.1:c.1023T>G	XP_011523296.1:p.Thr341=
NM_001346712.1:c.1044T>G	NP_001333641.1:p.Thr348=
NM_001346714.1:c.1023T>G	NP_001333643.1:p.Thr341=
NM_001346716.1:c.1026T>G	NP_001333645.1:p.Thr342=
NR_144488.1:n.1225T>G
XM_024450831.1:c.1026T>G	XP_024306599.1:p.Thr342=
XM_024450832.1:c.1041T>G	XP_024306600.1:p.Thr347=
XM_024450833.1:c.981T>G	XP_024306601.1:p.Thr327=
XM_024450834.1:c.1044T>G	XP_024306602.1:p.Thr348=
XM_024450835.1:c.660T>G	XP_024306603.1:p.Thr220=
NM_018404.3:c.1026T>G MANE Select	NP_060874.1:p.Thr342=
NM_001346712.2:c.1044T>G	NP_001333641.1:p.Thr348=
NM_001346714.2:c.1023T>G	NP_001333643.1:p.Thr341=
NM_001346716.2:c.1026T>G	NP_001333645.1:p.Thr342=
NR_144488.2:n.1016T>G